Gene Therapy Restores Vision in Leber Congenital Amaurosis

Five children and seven adults with Leber congenital amaurosis, a rare, progressive retinal disease that causes blindness, have had their sight partially restored after receiving a single injection of gene therapy. Among the patients treated with the gene therapy, who ranged in age from 8 to 44 years at the time of treatment, the children experienced the most improvement in vision.

Leber congenital amaurosis is an inherited retinal degenerative disease in which individuals experience a severe loss of vision at birth. Signs and symptoms such as deep-set eyes, roving eye movements (nystagmus), and hypersensitivity to bright light also occur. Initially, Leber congenital amaurosis can be confused with early onset retinitis pigmentosa, cortical blindness, congenital and hereditary optic atrophy, and flecked retina syndrome. Diagnostic tests including electroretinography, which measures retinal function, along with accurate documentation of family history can distinguish between these related vision problems. People with Leber congenital amaurosis display little if any activity in the retina.

The current study, which was conducted by researchers from the University of Pennsylvania School of Medicine and the Center for Cellular and Molecular Therapeutics at The Children’s Hospital of Philadelphia, is a great leap forward for the field of gene therapy. While this study of gene therapy for Leber congenital amaurosis provides a treatment option for individuals who had none before, the authors of the study also note that their results may open the door for treatment of more common retinal diseases, including age-related macular degeneration.

Advertisement

Half of the twelve patients achieved an improvement in vision so they are no longer classified as legally blind. Among the children who were treated with gene therapy, they “are now able to walk and play just like any normally sighted child,” said Albert M. Maguire, MD, an associate professor of ophthalmology at University of Pennsylvania School of Medicine and a physician at Children’s Hospital, in a release issued by the hospital.

In the study, patients received a single injection of genes designed to produce proteins to make the light receptors work in their retinas. Each patient received the injection in the eye that had the poorer function. In an earlier part of the study, results concerning the first three young adults to receive gene therapy for the disease were published. Following this success, five children received gene therapy, along with four other adults. None of the patients experienced any serious adverse effects from the gene therapy.

Two weeks after receiving gene therapy, all the patients reported an improvement in vision in dimly lit environments. All the patients were able to detect significantly more light and had greater light sensitivity in the treated eye compared with the untreated one. Of the nine patients that had nystagmus before treatment, seven reported significant improvement after receiving gene therapy.

Related Terms

According to data reported by the American Academy of Ophthalmology, in the developing world, between 5 and 25% of eye diseases are causing blindness in the population. This causes the patient's life to be radically transformed since it limits their daily activities as well as their way of communicating with others. Researchers now find dissolving contact lenses that help help to treat eye disease.

Macular degeneration robs millions of their eyesight every year. In fact, there is no more obvious sign of dietary deficiency than to receive a diagnosis of macular degeneration. Once recognized, however, age-related macular degeneration can be thwarted by eating more antioxidant-rich foods and supplementing with zinc.

It's not just BB guns and your child shooting his (or a sibling’s) eye out this Christmas that you need to worry about. According to the FDA, laser toys can be just as dangerous to your child’s vision.

According to the Global Prevalence of Glaucoma and Projections report, in 2013, the number of people (aged 40–80 years) with glaucoma worldwide was estimated to be 64.3 million, increasing to 76.0 million in 2020 and 111.8 million in 2040. So, if you have a family history of glaucoma disease and want to do something about it, the 5 vegan foods below may be able to prevent glaucoma or stop its progress.

Glaucoma is a disease that damages your eye's optic nerve. It usually happens when fluid builds up in the front part of your eye, and according to the National Eye Institute from 2010 to 2050, the number of people in the U.S. with glaucoma is expected to increase by more than double, from 2.7 million to 6.3 million. Glaucoma treatment consists of using beta-blockers medication or surgical procedures. However, there is evidence that dietary choices can prevent glaucoma from progressing. So, below are some natural approaches to prevent glaucoma or stop its progress.

The eyes suffer the most from nutritional deficiency. especially as we age. This gradual decline begins with having to wear glasses and could progress to eye degeneration when diet is incorrect. Research reveals that deficiencies and degeneration are more prevalent in people who eat red meat.